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rs1057519660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACGAGGAAAACTG) 5 Familial Hypercholesterolemia
(ACGAGGAAAACTG;ACGAGGAAAACTG) 0 common/normal
(CTGACGAGGAAAA;CTGACGAGGAAAA) 0 common in clinvar
Chromosome19
Position11105586
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519660
dbSNP (old)rs1057519660
ClinGenrs1057519660
ebirs1057519660
HLIrs1057519660
Exacrs1057519660
Gnomadrs1057519660
Varsomers1057519660
Maprs1057519660
PheGenIrs1057519660
Biobankrs1057519660
1000 genomesrs1057519660
hgdprs1057519660
ensemblrs1057519660
gopubmedrs1057519660
geneviewrs1057519660
scholarrs1057519660
googlers1057519660
pharmgkbrs1057519660
gwascentralrs1057519660
openSNPrs1057519660
23andMers1057519660
23andMe allrs1057519660
SNPshotrs1057519660
SNPdbers1057519660
MSV3drs1057519660
GWAS Ctlgrs1057519660
Max Magnitude5
ClinVar
Risk rs1057519660(-;-)
Alt rs1057519660(-;-)
Reference Rs1057519660(CTGACGAGGAAAA;CTGACGAGGAAAA)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216262_11216274delACGAGGAAAACTG
CLNSRC
CLNACC RCV000417298.1,